Search Result "PMM2 mutation"
Novel Treatment for Congenital Disorder of Glycosylation in a Patient with Novel Homozygote Mutation of PMM2: A Case Report and Review Literature
Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 21 Issue: 12 Year: 2021 Page: 2296-2299
Author(s): Sedigheh Madani,Fatemeh Sayarifard,Parisa Tajdini,Reihaneh Mohsenipour,Hamid Reza Khoram khorshid,Nima Rezaei
Understanding Congenital Glycosylation Disorders
Ebook: Glycosylation and Glycation in Health and Diseases
Volume: 1 Year: 2025
Author(s): Rajeev K. Singla
Congenital Disorders of Glycosylation (CDG): Update and Perspectives
Journal: Current Pediatric Reviews
Volume: 2 Issue: 4 Year: 2006 Page: 323-330
Author(s): Renate Zeevaert, Els Schollen, Hubert Carchon, Gert Matthijs, Jaak Jaeken
Genetic Risk Factors for Glaucoma and Exfoliation Syndrome Identified by Genome-wide Association Studies
Journal: Current Neuropharmacology
Volume: 16 Issue: 7 Year: 2018 Page: 933-941
Author(s): Yoichi Sakurada,Fumihiko Mabuchi
Prospects of Primary Ovarian Insufficiency Patient-Specific Pluripotent Stem Cells for Disease Modeling and Clinical Impacts
Journal: Current Women`s Health Reviews
Volume: 14 Issue: 1 Year: 2018 Page: 67-80
Author(s): Hsin-Fu Chen,Hong-Nerng Ho
How can Proteomics Reach Cancer Biomarkers?
Journal: Current Proteomics
Volume: 10 Issue: 2 Year: 2013 Page: 136-149
Author(s): Carolina Panis, Luciana Pizzatti, Eliana Abdelhay